Skip to main content

June 10, 2024

Erica Sparkenbaugh, PhD has paper published in Research and Practices in Thrombosis and Haemostasis

A manuscript entitled “Disease severity drives thrombosis risk in women with sickle cell disease in a single-center retrospective study” was recently accepted in Research and Practice in Thrombosis and Haemostasias. The research was initiated by Jennifer Light, MD, during her fellowship in the UNC Pediatrics Division of Hematology and Oncology. She performed her basic research …

June 7, 2024

Alisa Wolberg and Karin Leiderman awarded MPI NIH R01 Grant

A new MPI NIH R01 was awarded to Alisa Wolberg, PhD and Karin Leiderman, PhD of University of North Carolina at Chapel Hill School of Medicine, entitled: “Interdisciplinary Approach to Elucidate Modifiers of Bleeding Phenotype in Factor XI Deficiency.” PROJECT SUMMARY Congenital deficiency of plasma clotting factor (F)XI is an autosomal disorder. Whereas some individuals are asymptomatic (non-bleeders), others have …

June 7, 2024

Karin Leiderman, PhD gets paper published in The Journal of Mathematical Biosciences

Jamie Madrigal, Mac Monroe, Suzanne Sindi, Karin Leiderman, from The University of North Carolina at Chapel Hill School of Medicine, had a new paper published in Mathematical Biosciences. “Modeling the Distribution of Enzymes on Lipid Vesicles: A Novel Framework for Surface-Mediated Reactions in Coagulation”. Abstract Blood coagulation is a network of biochemical reactions wherein dozens …

December 12, 2019

Dominguez

Research Interests Gene regulation, RNA processing and RNA binding proteins in cell signaling and disease Research Synopsis The Dominguez lab studies how gene expression is controlled by proteins that bind RNA. RNA binding proteins control the way RNAs are transcribed, spliced, polyadenylated, exported, degraded, and translated. Areas of research include: Altered RNA-protein interactions in cancer RNA processing is massively altered in cancer. These observations can be explained by 1) mutations in RNA binding proteins that alter how they bind their target transcripts, 2) mutations in RNA sequences that are normally bound by specific RNA binding proteins. We use computational approaches and biochemical assays to characterize mechanisms underlying cancer-specific RNA processing defects. RNA binding by noncanonical domains Recent evidence indicates that non-canonical domains or even disordered regions also bind RNA. We employ large-scale biochemical approaches to study these interactions in vitro and and in vivo. Given the prevalence of low-complexity domains in the proteome and their association with disease, understanding how these domains interact with RNA will shed new light on normal and aberrant RNA biology. Cell signaling and RNA processing Cell signaling pathways are known to modulate gene expression. However, crosstalk/cross-regulation between RNA processing and cell signaling is not well understood. We use systematic screening approaches to dissect the impact of cell signaling pathways on RNA binding protein activity. This project involves the study of post-translational modifications of RNA binding proteins, the use of targeted drug screens and integrative analysis with RNA sequencing datasets.

December 10, 2019

Kasztan

I have been committed to building a strong translational research program to address novel challenges and questions related to blood and renal pathophysiology in rodents and humans. My work provided strong pre-clinical evidence that endothelin system significantly contributes to sickle cell renal pathophysiology. My collaborative efforts with Dr. Lebensburger identified predictors of the onset of long-term kidney insufficiency and uncovered clear sex differences in the rate of sickle cell nephropathy progression in patients and murine model of sickle cell disease. My current research focuses on functional significance of iron homeostasis in chronic kidney disease (CKD), in particular, the mechanisms of renal iron handling in progressive sickle cell nephropathy. Currently, my lab has three on-going research projects: 1) elucidating molecular mechanisms of endothelin system-mediated renal iron handling in murine models of iron overload; 2) mechanisms of renal dysfunction in sickle cell trait, 3) identifying risk factors for early progression to CKD in sickle cell pediatric patients.

December 9, 2019

Lee

Kristy Lee is a Certified Genetic Counselor and Research Professor in the Department of Genetics at the University of North Carolina at Chapel Hill. Ms. Lee received her undergraduate degree from North Carolina State University and a master’s degree in Genetic Counseling from the University of North Carolina at Greensboro. She specializes in genetic counseling for patients and their families with hereditary coagulopathies and inherited retinal disorders in adults and children. Her research interests involve examining the effectiveness and implementation of exome sequencing analysis and novel gene discovery for coagulopathies and retinal dystrophies, and actionability of secondary findings from exome/genome testing. She has been involved in multiple genome/exome studies analyzing the utility of exome sequencing as a clinical test, with specific focus on informed consent, molecular variant analysis and results disclosure of diagnostic and secondary findings. She also serves as a key liaison and molecular variant analyst on multiple retinal dystrophy and bleeding & clotting disorder expert panel groups for the ClinGen Resource, and she is a member of the ACMG Secondary Findings Working Group.

December 5, 2019

Obadina

I am a clinical researcher focused on identifying modifiable risk factors to improve survival and quality of life of adults with sickle cell disease. My ongoing research interests are to characterize the phenomenon of occult hypoxia in high-risk subset of adults with sickle cell disease, and to explore the experience of pregnancy and its complications in the sickle cell population. As a member of the BRC, I collaborate with colleagues to understanding the impact of red blood cell and placental health on pregnancy outcomes.